Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Autor: Strafella C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy., Colantoni L; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy., Megalizzi D; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy., Trastulli G; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy., Piorgo EP; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy., Primiano G; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Sancricca C; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Ricci G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Caltagirone C; Department of Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia, Rome, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy., Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK., Ricci E; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy., Cascella R; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy.; Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Tirana, Albania., Giardina E; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy.; Department of Biomedicine and Prevention, Medical Genetics Laboratory, Tor Vergata University, Rome, Italy.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 335-339. Date of Electronic Publication: 2023 Dec 02.
DOI: 10.1111/cge.14466
Abstrakt: Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%-30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non-penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the D4Z4 Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD-diagnostic from 100 Italian families. The D4Z4 testing revealed that 60 families reported a DRA compatible with FSHD1 (1-10 RU). The DRA co-segregated with the disease in most cases. Five families with truly de novo cases were identified, suggesting that this condition may be slightly lower (8%) than previously reported. In addition, D4Z4 characterization in the investigated families showed 4% of mosaic cases and 2% with translocations. This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families.
(© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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